Testing BRCA Negative

Could it be Cowden Syndrome?

by Sue Friedman

If your family is BRCA negative could the unexplained cancers among relatives
be a result of Cowden Syndrome? This inherited disorder is caused
by a mutation in a gene called PTEN. It’s not always easy to diagnose
a family with Cowden Syndrome because of the broad range of possible features
.

People with Cowden Syndrome have increased risk for both benign
(noncancerous) and cancerous growths. Types of cancers seen in families
with Cowden Syndrome include breast cancer, thyroid cancer, and endometrial
(uterine) cancer. Women who have a PTEN mutation may have a lifetime risk
for breast cancer as high as 50 percent, and like individuals with BRCA mutations,
premenopausal breast cancer (breast cancer diagnosed before age 50) may be
more common. Women with Cowden Syndrome also have up to a 10 percent risk
for developing uterine cancer. Men with the mutation may also be at elevated
risk for male breast cancer. Both men and women with a PTEN mutation have
a risk for thyroid cancer that may be as high as 10 percent.

Other less
common cancers, including ovarian and pancreatic cancers, can also be seen
in families with this syndrome. Because some cancers are common to both
BRCA and Cowden Syndrome families, the family medical history may appear
similar prior to specific identification by genetic testing.

Other signs
may point to Cowden Syndrome within a family. Carriers of the PTEN mutation
may have visible benign growths such as lipomas (fatty lumps), polyps, hamartomas
(benign masses), and skin tags. They may also have increased incidence of
goiter (benign growth of the thyroid), and other thyroid problems, fibrocystic
breast changes, and intestinal polyps. Some individuals may have a larger
than average head size, although this doesn’t always occur. Any one
of these signs alone doesn’t necessarily point to Cowden Syndrome.
Genetics experts combine physical exam results and family medical history,
including cancer, to help determine if there may be a PTEN mutation in the
family.

Like those who have a BRCA mutation, individuals with a PTEN mutation
have a 50 percent chance of passing the gene mutation along to their children.
Genetic testing can identify this syndrome; however, because of the complexity
associated with diagnosis, families with an increased incidence of cancer
should consult with a cancer genetics expert to determine if Cowden Syndrome
may be the cause. Families who have the above cancers and who test negative
for a BRCA mutation should also consult with genetics experts to determine
if testing for a PTEN mutation may be appropriate.

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